遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)	BRCA1	Pathogenic	17	41226348	41226348	C	T	reviewed by expert panel	ClinGen:CA002963
single nucleotide variant	NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)	BRCA1	Pathogenic/Likely pathogenic	17	41226348	41226348	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA002964
single nucleotide variant	NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	BRCA1	Pathogenic	17	41223242	41223242	G	C	reviewed by expert panel	ClinGen:CA002979
Indel	NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs)	BRCA1	Pathogenic	17	41223152	41223156	TATGT	G	reviewed by expert panel	ClinGen:CA003016
single nucleotide variant	NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41223063	41223063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003058,UniProtKB:P38398#VAR_063901
Deletion	NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)	BRCA1	Pathogenic	17	41222949	41222967	TTCTTCTGGGGTCAGGCCAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5083&base_change=del 19,ClinGen:CA003108
single nucleotide variant	NM_007294.4(BRCA1):c.4986+1G>T	BRCA1	Pathogenic	17	41222944	41222944	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003119
single nucleotide variant	NM_007294.4(BRCA1):c.4986+4A>C	BRCA1	Pathogenic/Likely pathogenic	17	41222941	41222941	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+4&base_change=A to C,ClinGen:CA003122
single nucleotide variant	NM_007294.4(BRCA1):c.4986+6T>C	BRCA1	Pathogenic/Likely pathogenic	17	41222939	41222939	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+6&base_change=T to C,ClinGen:CA003127
Deletion	NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)	BRCA1	Pathogenic	17	41219666	41219669	ATTAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5146&base_change=del TAAC,Breast Cancer Information Core (BIC) (BRCA1):5147&base_change=del AACT,Breast Cancer Information Core (BIC) (BRCA1):5149&base_change=del CTAA,ClinGen:CA003158